Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
Recommended test to confirm a hereditary cause of gastrointestinal (GI) cancer in individuals with a personal or family history of GI cancer and/or polyposis. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.
To compare this test to other hereditary cancer panels, refer to the Hereditary Cancer Panel Comparison table.
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Min: 3 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-Dependent Probe Amplification (MLPA)
Performed
Varies
Reported
14-21 days
Reference Interval
By report
Interpretive Data
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Genes Tested: APC*; AXIN2; BMPR1A*; CDH1*; CHEK2*; EPCAM**; KIT; MLH1; MLH3*; MSH2; MSH3; MSH6; MUTYH; NTHL1; PDGFRA*; PMS2; POLD1; POLE; PTEN*; SDHA*; SDHB; SDHC*; SDHD*; SMAD4; STK11; TP53
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
**Deletion/duplication analysis of EPCAM (NM_002354) exon 9 only, sequencing is not available for this gene.
Hotline History
CPT Codes
81435; 81436
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2010199 | Gastrointestinal Cancer Panel - Spcmn | 31208-2 |
2013450 | Gastrointestinal Cancer Panel - Interp | 41103-3 |
Aliases
- Cowden syndrome
- Familial Adenomatous Polyposis (FAP)
- GIST
- Hereditary Diffuse Gastric Cancer (HDGC)
- Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
- Hereditary Paraganglioma Pheochromocytoma syndrome
- Juvenile polyposis
- Juvenile Polyposis syndrome (JPS)
- Li-Fraumeni syndrome (LFS)
- Lynch
- Lynch syndrome
- MUTYH-associated polyposis (MAP)
- Peutz Jegher syndrome (PJS)